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Record W2529940632 · doi:10.1681/asn.2015101152

Genome-Wide Association of CKD Progression: The Chronic Renal Insufficiency Cohort Study

2016· article· en· W2529940632 on OpenAlexaff
Afshin Parsa, Peter A. Kanetsky, Rui Xiao, Jayanta Gupta, Nandita Mitra, Sophie Limou, Dawei Xie, Huichun Xu, Amanda H. Anderson, Akinlolu Ojo, John W. Kusek, Claudia M. Lora, L. Lee Hamm, Jiang He, Niina Sandholm, Janina M. Jeff, Dominic E. Raj, Carsten A. Böger, Erwin P. Böttinger, Shabnam Salimi, Rulan S. Parekh, Sharon G. Adler, Carl D. Langefeld, Donald W. Bowden, Per‐Henrik Groop, Carol Forsblom, Barry I. Freedman, Michael S. Lipkowitz, Caroline S. Fox, Cheryl A. Winkler, Harold I. Feldman

Bibliographic record

VenueJournal of the American Society of Nephrology · 2016
Typearticle
Languageen
FieldMedicine
TopicBirth, Development, and Health
Canadian institutionsSickKids FoundationHospital for Sick ChildrenUniversity of TorontoUniversity Health Network
FundersNational Center for Advancing Translational SciencesNational Institute of Diabetes and Digestive and Kidney DiseasesNational Center for Research ResourcesNational Institute of General Medical SciencesNational Institute on AgingCase Western Reserve UniversityKaiser Permanente
KeywordsMedicineChronic renal insufficiencyKidney diseaseCohortInternal medicineCohort studyGenome-wide association studyOncologyRenal functionBiologyGeneticsSingle-nucleotide polymorphismGeneGenotype

Abstract

fetched live from OpenAlex

The rate of decline of renal function varies significantly among individuals with CKD. To understand better the contribution of genetics to CKD progression, we performed a genome–wide association study among participants in the Chronic Renal Insufficiency Cohort Study. Our outcome of interest was CKD progression measured as change in eGFR over time among 1331 blacks and 1476 whites with CKD. We stratified all analyses by race and subsequently, diabetes status. Single-nucleotide polymorphisms (SNPs) that surpassed a significance threshold of P <1×10 −6 for association with eGFR slope were selected as candidates for follow-up and secondarily tested for association with proteinuria and time to ESRD. We identified 12 such SNPs among black patients and six such SNPs among white patients. We were able to conduct follow-up analyses of three candidate SNPs in similar (replication) cohorts and eight candidate SNPs in phenotype-related (validation) cohorts. Among blacks without diabetes, rs653747 in LINC00923 replicated in the African American Study of Kidney Disease and Hypertension cohort (discovery P =5.42×10 −7 ; replication P =0.039; combined P =7.42×10 −9 ). This SNP also associated with ESRD (hazard ratio, 2.0 (95% confidence interval, 1.5 to 2.7); P =4.90×10 −6 ). Similarly, rs931891 in LINC00923 associated with eGFR decline ( P =1.44×10 −4 ) in white patients without diabetes. In summary, SNPs in LINC00923 , an RNA gene expressed in the kidney, significantly associated with CKD progression in individuals with nondiabetic CKD. However, the lack of equivalent cohorts hampered replication for most discovery loci. Further replication of our findings in comparable study populations is warranted.

Fetched live from OpenAlex and de-inverted. Abstracts are not stored in this database: the inverted indexes are 8.6 GB of the frame’s 9.3 GB of text, and the host has 13 GB free.

How this classification was reachedexpand

Full frame distilled prediction

Teacher imitation

Not calibrated prevalence, not ground truth. Human validation pending. Learned from the 10,348 direct Codex labels and 10,348 direct Gemma labels. Candidate is the union of thresholded teacher heads; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels or direct frontier model labels.

metaresearch head score (Codex)0.002
metaresearch head score (Gemma)0.000
Version: codex-gemma-dda1882f352aValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Observational · Consensus signal: Observational
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.041
Threshold uncertainty score0.212

Codex and Gemma teacher scores by category

CategoryCodexGemma
Metaresearch0.0020.000
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0010.000
Bibliometrics0.0000.000
Science and technology studies0.0000.001
Scholarly communication0.0000.000
Open science0.0000.000
Research integrity0.0000.000
Insufficient payload (model declined to judge)0.0000.000

Machine scores (provisional)

The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.

Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.

Opus teacher head0.015
GPT teacher head0.303
Teacher spread0.289 · how far apart the two teachers sit on this one work
Validation statusscore_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from it

Classification

machine, unvalidated

Machine predicted; a candidate call from one teacher head, not a consensus.

The models applied no category: nothing in the taxonomy fit this work.
Study designObservational
Domainnot available
GenreEmpirical

How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".

Quick stats

Citations68
Published2016
Admission routes1
Has abstractyes

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